List of variants in gene ACTN2 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)	rs200248944	0.00027
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)	rs139515659	0.00025
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)	rs727504590	0.00013
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)	rs148972050	0.00009
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)	rs200854335	0.00005
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)	rs201335965	0.00004
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu)	rs200969588	0.00002
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp)	rs563171274	0.00001
NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser)	rs200143657	0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln)	rs200316891	0.00001
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val)	rs566860712
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)	rs199604590
NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro)	rs786205346
NM_001103.4(ACTN2):c.2419G>C (p.Gly807Arg)	rs200282066

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.